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Early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy: new human hotfoot phenotype caused by homozygous GRID2 deletion.

par Van Schil, Kristof;Meire, Françoise ;Karlstetter, Marcus;Bauwens, Miriam;Verdin, Hannah;Coppieters, Frauke;Scheiffert, Eva;Van Nechel, Christian ;Langmann, Thomas;Deconinck, Nicolas ;De Baere, Elfride
Référence Genetics in medicine
Publication Publié, 2014-08

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Titre:	Early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy: new human hotfoot phenotype caused by homozygous GRID2 deletion.
Auteur:	Van Schil, Kristof; Meire, Françoise; Karlstetter, Marcus; Bauwens, Miriam; Verdin, Hannah; Coppieters, Frauke; Scheiffert, Eva; Van Nechel, Christian; Langmann, Thomas; Deconinck, Nicolas; De Baere, Elfride
Informations sur la publication:	Genetics in medicine
Statut de publication:	Publié, 2014-08
Sujet CREF:	Sciences bio-médicales et agricoles
Mots-clés:	autosomal recessive cerebellar ataxia
	glutamate receptor
	GRID2
	hotfoot
	retinal dystrophy
MeSH keywords:	Animals
	Child, Preschool
	DNA Copy Number Variations -- genetics
	Exons -- genetics
	Female
	Gene Expression Regulation
	High-Throughput Nucleotide Sequencing
	Humans
	Infant
	Mice
	Pedigree
	Receptors, Glutamate -- biosynthesis -- genetics
	Retina -- metabolism -- pathology
	Retinal Dystrophies -- complications -- genetics -- pathology
	Sequence Deletion
	Spinocerebellar Degenerations -- complications -- genetics -- pathology
Note générale:	SCOPUS: ar.j
Langue:	Anglais
Identificateurs:	urn:issn:1098-3600
	info:doi/10.1038/gim.2014.95
	info:pii/gim201495
	info:scp/84926507307
	info:pmid/25122145